For their love, support, and understanding
“Make assurance double sure.”
Shakespeare, Macbeth
Genetic Disorders and the Fetus
Diagnosis, Prevention, and Treatment
EIGHTH EDITION
EDITED BY
Aubrey Milunsky, mb bch, dsc, frcp, facmg, dch
Professor of Obstetrics and Gynecology
Tufts University School of Medicine
Formerly Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology
Boston University School of Medicine
Founder and Co-Director, Center for Human Genetics
Cambridge, MA, USA
Jeff M. Milunsky, md, facmg
Professor of Obstetrics and Gynecology
Tufts University School of Medicine
Formerly Professor of Genetics and Genomics, and Pediatrics
Boston University School of Medicine
Co-Director, Center for Human Genetics
Director, Clinical and Molecular Genetics
Cambridge, MA, USA
This eighth edition first published 2021 © 2021 Aubrey Milunsky and Jeff M. Milunsky
Edition History Previous editions: © 2016, 2010 Aubrey Milunsky and Jeff M. Milunsky; © 2004, 1998, 1992, 1986, 1979 Aubrey Milunsky
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Library of Congress Cataloging-in-Publication Data
Names: Milunsky, Aubrey, editor. | Milunsky, Jeff M., editor.
Title: Genetic disorders and the fetus : diagnosis, prevention, and
treatment / edited by Aubrey Milunsky, MB BCh, DSc, FRCP, FACMG, DCH
and Jeff M. Milunsky, MD, FACMG.
Description: Eighth edition. | Hoboken, NJ : Wiley-Blackwell, 2021.
Identifiers: LCCN 2021058739 (print) | LCCN 2021058740 (ebook) | ISBN
9781119676935 (hardback) | ISBN 9781119676973 (adobe pdf) | ISBN
9781119676959 (epub)
Subjects: LCSH: Prenatal diagnosis. | Fetus–Diseases–Genetic aspects. |
Fetus–Abnormalities–Genetic aspects.
Classification: LCC RG628 .G46 2021 (print) | LCC RG628 (ebook) | DDC
618.3/2075–dc23
LC record available at https://lccn.loc.gov/2021058739
LC ebook record available at https://lccn.loc.gov/2021058740
Cover Design: Wiley
Cover Image: © (Left column): Rasi Bhadramani/iStock/Getty Images.
(Top row)(left) Roland Axt-Fliedner and Aline Wolter; (center) Liesbeth van Leeuwen,
Malou A. Lugthart, and Eva Pajkrt; (right) Liesbeth van Leeuwen, Malou A. Lugthart, and
Eva Pajkrt. (Middle row)(left) Nadine Girard and Kathia Chaumoitre; (center) Nadine Girard
and Kathia Chaumoitre; (right) Michael A. Belfort and Alireza A. Shamshirsaz.
(Bottom row)(left) Anver Kuliev and Svetlana Rechitsky.
Preface
Certainty and trust are the hallmarks of prenatal diagnosis where doubt and ambiguity are outlaws. At no time was that more apparent than when AM made his first prenatal genetic diagnosis over 50 years ago. “Are you sure?” were that patient's first words, intoned with deep anxiety. Those words underscored the still cogent need for accuracy in prenatal diagnosis, where mostly a single report would be final. That was a time when prenatal diagnosis depended on amniocentesis‐based study, yielding an accuracy rate exceeding 99 percent. Few laboratory tests, then or now, concerned with profoundly important decision‐making equal this enviable accuracy. Variants of uncertain significance had not yet entered the genetic lexicon.
Today, however, with the newer, beguiling, noninvasive technology, amniocentesis and chorionic villus sampling (CVS) use has declined dramatically. On the altars of convenience and expediency,